Canonical Allele Identifier: CA2555058355
Gene: SPINK5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148107486_148107487insAT , CM000667.2:g.148107486_148107487insAT GRCh38
NC_000005.9:g.147487049_147487050insAT , CM000667.1:g.147487049_147487050insAT GRCh37
NC_000005.8:g.147467242_147467243insAT NCBI36
NG_009633.1:g.48515_48516insAT , LRG_110:g.48515_48516insAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000481286.6:n.1216+322_1216+323insAT
ENST00000256084.8:c.1607+322_1607+323insAT MANE Select ENSP00000256084.7:n.1607+322_1607+323insAT
ENST00000256084.7:c.1607+322_1607+323insAT ENSP00000256084.7:n.1607+322_1607+323insAT
ENST00000359874.7:c.1607+322_1607+323insAT ENSP00000352936.3:n.1607+322_1607+323insAT
ENST00000398454.5:c.1607+322_1607+323insAT ENSP00000381472.1:n.1607+322_1607+323insAT
ENST00000507988.5:n.1771+322_1771+323insAT
ENST00000508733.5:c.1550+322_1550+323insAT ENSP00000421519.1:n.1550+322_1550+323insAT
NM_001127698.1:c.1607+322_1607+323insAT NP_001121170.1:n.1607+322_1607+323insAT
NM_001127699.1:c.1607+322_1607+323insAT NP_001121171.1:n.1607+322_1607+323insAT
NM_006846.3:c.1607+322_1607+323insAT , LRG_110t1:c.1607+322_1607+323insAT NP_006837.2:n.1607+322_1607+323insAT
XM_011537550.1:c.1550+322_1550+323insAT XP_011535852.1:n.1550+322_1550+323insAT
XM_011537551.1:c.1523+322_1523+323insAT XP_011535853.1:n.1523+322_1523+323insAT
XM_011537551.2:c.1523+322_1523+323insAT XP_011535853.1:n.1523+322_1523+323insAT
NM_001127698.2:c.1607+322_1607+323insAT NP_001121170.1:n.1607+322_1607+323insAT
NM_001127699.2:c.1607+322_1607+323insAT NP_001121171.1:n.1607+322_1607+323insAT
NM_006846.4:c.1607+322_1607+323insAT MANE Select NP_006837.2:n.1607+322_1607+323insAT